Rare Disease Congressional Caucus Briefing November 15th

RUN is a proud partner of the

Rare Disease Congressional Caucus

An accurate diagnosis is usually the first step in developing a treatment plan for a patient, but it often takes rare disease patients several years and consultations with multiple specialists to receive one. New advances in genomics, genetic sequencing and other diagnostic technologies have made diagnoses easier to obtain, but policy and regulatory challenges remain. In addition, newborn screening programs vary widely by state, resulting in disparate outcomes for babies with rare diseases.

The Rare Disease Congressional Caucus in conjunction with Rare Disease Legislative Advocates (RDLA) will host a briefing on November 15th entitled, “Diagnostic Challenges for Rare Disease Patients,” to highlight hurdles for rare disease patients seeking diagnosis and possible policy solutions. You can register for the livestream here.

Rare Disease Legislative Advocates in coordination with Rare Disease Congressional Caucus

Co-Chairs Representatives Leonard Lance (R-NJ) and G.K. Butterfield (D-NC) and

Senators Orrin Hatch (R-UT) and Amy Klobuchar (D-MN) invite you to a briefing on

Diagnostic Challenges for Rare Disease Patients 

Wednesday, November 15, 2017

12– 1:15 pm 2203 Rayburn House Office Building 

Lunch will be provided 

Moderator: Elisa Seeger, Founder, Aidan Jack Seeger Foundation

Newborn Screening and the Federal Government

Rebecca Abbott, Deputy Director of Federal Affairs for Public Health, March of Dimes

The Role of Genetic Sequencing in Diagnosis

Cristina Might, Founder and President, NGLY1.org

Whole Genome Sequencing for Children with Rare and Undiagnosed Genetic Disease

Ryan Taft, Senior Director, Scientific Research, Illumina

The Challenge of Access to Genetic Testing

Erin Lee, Founder, Piper’s Kidney Beans

The Future of Diagnostics

Cynthia Tifft, Deputy Clinical Director, National Human Genome Research Institute and Director, Pediatric Undiagnosed Diseases Program, National Institutes of Health

The MSSNG Program

Stuart Spielman, Senior Policy Advisor and Counsel, Autism Speaks


About RDLA

Rare Disease Legislative Advocates is a program of the EveryLife Foundation for Rare Diseases designed to support the advocacy of all rare disease patients and organizations. By growing the patient advocacy community and working collectively, we can amplify our many voices to ensure that rare disease patients are heard in state and federal government.

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